UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 119

Sortiert nach

Next-Generation Sequencing: From Basic Research to Diagnostics

Clinical chemistry (Baltimore, Md.), 2009-04, Vol.55 (4), p.641-658

2009

Link zum Volltext

Verfügbarkeit prüfen

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

American journal of human genetics, 2013-11, Vol.93 (5), p.812-824

2013

Link zum Volltext

Verfügbarkeit prüfen

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in medicine, 2015-05, Vol.17 (5), p.405-424

2015

Link zum Volltext

Verfügbarkeit prüfen

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists

The Journal of molecular diagnostics : JMD, 2017-05, Vol.19 (3), p.341-365

2017

Link zum Volltext

Verfügbarkeit prüfen

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists

The Journal of molecular diagnostics : JMD, 2018-01, Vol.20 (1), p.4-27

2018

Link zum Volltext

Verfügbarkeit prüfen

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

American journal of human genetics, 2014-04, Vol.94 (4), p.599-610

2014

Link zum Volltext

Verfügbarkeit prüfen

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Archives of pathology & laboratory medicine (1976), 2015-04, Vol.139 (4), p.481-493

2015

Link zum Volltext

Verfügbarkeit prüfen

Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling

Genome Biology, 2016-05, Vol.17 (1), p.111-111, Article 111

2016

Link zum Volltext

Verfügbarkeit prüfen

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Nature communications, 2018-03, Vol.9 (1), p.1239-10, Article 1239

2018

Link zum Volltext

Verfügbarkeit prüfen

High resolution melting applications for clinical laboratory medicine

Experimental and molecular pathology, 2008-08, Vol.85 (1), p.50-58

2008

Link zum Volltext

Verfügbarkeit prüfen

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

The Journal of molecular diagnostics : JMD, 2010-09, Vol.12 (5), p.539-551

2010

Link zum Volltext

Verfügbarkeit prüfen

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease

Archives of pathology & laboratory medicine (1976), 2017-06, Vol.141 (6), p.798-805

2017

Link zum Volltext

Verfügbarkeit prüfen

Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping: Cross-Platform Comparison of Instruments and Dyes

Clinical chemistry (Baltimore, Md.), 2006-03, Vol.52 (3), p.494-503

2006

Link zum Volltext

Verfügbarkeit prüfen

Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells

Journal of leukocyte biology, 2020-08, Vol.108 (2), p.469-484

2020

Link zum Volltext

Verfügbarkeit prüfen

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Nature biotechnology, 2014-07, Vol.32 (7), p.663-669

2014

Link zum Volltext

Verfügbarkeit prüfen

Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping

Clinical chemistry (Baltimore, Md.), 2007-08, Vol.53 (8), p.1544-1548

2007

Link zum Volltext

Verfügbarkeit prüfen

CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells

Journal of allergy and clinical immunology, 2021-04, Vol.147 (4), p.1504-1507.e8

2021

Link zum Volltext

Verfügbarkeit prüfen

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Nature biotechnology, 2015-07, Vol.33 (7), p.689-693

2015

Link zum Volltext

Verfügbarkeit prüfen

Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys

Archives of pathology & laboratory medicine (1976), 2023-02, Vol.147 (2), p.137-142

2023

Link zum Volltext

Verfügbarkeit prüfen

Specific versus Nonspecific Isothermal DNA Amplification through Thermophilic Polymerase and Nicking Enzyme Activities

Biochemistry (Easton), 2008-09, Vol.47 (38), p.9987-9999

2008

Link zum Volltext

Verfügbarkeit prüfen

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases

Archives of pathology & laboratory medicine (1976), 2017-06, Vol.141 (6), p.787-797

2017

Link zum Volltext

Verfügbarkeit prüfen

Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting: A Study From the College of American Pathologists Molecular Oncology Committee

Archives of pathology & laboratory medicine (1976), 2022-07, Vol.146 (7), p.822-832

2022

Link zum Volltext

Verfügbarkeit prüfen

Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting

Archives of pathology & laboratory medicine (1976), 2022-07, Vol.146 (7), p.822-832

2022

Link zum Volltext

Verfügbarkeit prüfen

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Journal of clinical immunology, 2015-02, Vol.35 (2), p.119-124

2015

Link zum Volltext

Verfügbarkeit prüfen

Methods-Based Proficiency Testing in Molecular Genetic Pathology

The Journal of molecular diagnostics : JMD, 2014-05, Vol.16 (3), p.283-287

2014

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 119

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(108)
Mit Volltextzugriff
(113)

Publikationsform

Sprache

Englisch
(119)
Japanisch
(13)

Erscheinungsjahr

n.n

Thema

Science & Technology
(78)
Life Sciences & Biomedicine
(74)
Humans
(67)
Pathology
(38)
Medical Laboratory Technology
(27)
Biological And Medical Sciences
(20)
Mutation
(20)
Medical Sciences
(18)
Genotype
(14)
Dna
(13)
Genomics
(13)
Male
(13)
Medicine, Research & Experimental
(13)
Research & Experimental Medicine
(13)
Sequence Analysis, Dna - Methods
(13)
Female
(12)
Investigative Techniques, Diagnostic Techniques
(12)
Polymerase Chain Reaction - Methods
(12)
Fundamental And Applied Biological Sciences. Psychology
(11)
Genes
(11)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Next-Generation Sequencing: From Basic Research to Diagnostics

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

High resolution melting applications for clinical laboratory medicine

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease

Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping: Cross-Platform Comparison of Instruments and Dyes

Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping

CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys

Specific versus Nonspecific Isothermal DNA Amplification through Thermophilic Polymerase and Nicking Enzyme Activities

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases

Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting: A Study From the College of American Pathologists Molecular Oncology Committee

Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Methods-Based Proficiency Testing in Molecular Genetic Pathology

Suchergebnisse filtern